Patterns of Neurocutaneous Syndromes in Upper Egypt

Mohamed, Essamelden Mohamed; Mahmoud, Waleed Ahmed; Aladawy, Mohammed Abo-Alwafa; Abd Elaziz, Abd Elaziz Shokry; Mazen, Moataz Abd Ellatif Ibrahim

doi:10.21608/ijma.2023.227163.1759

Patterns of Neurocutaneous Syndromes in Upper Egypt

Document Type : Original Article

Authors

¹ Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Al-Azhar University, Assiut, Egypt

² Department of Pediatrics, Faculty of Medicine, Al-Azhar University, Assiut, Egypt

³ Department of Neurology, Faculty of Medicine, Al-Azhar University, Assiut, Egypt

10.21608/ijma.2023.227163.1759

Abstract

Background: Neurocutaneous Syndromes [NCS] are rare congenital disorders manifesting at different ages with central nervous system and cutaneous abnormalities. its incidence below 1:2,000 individuals in the general population.
Aim of the Study: This study aims to determine different clinical patterns of NCS in Upper Egypt.
Patients and Methods: This is a cross section study included 80 patients with NCS selected from patients attending dermatology, pediatrics and neurology outpatient clinics of Al-Azhar University Hospital [Assiut], from 1^st May 2021 till 30^th June 2022. All patients enrolled in this study were subjected to complete history, dermatological and neurological examination. Computed tomography [CT], magnetic resonance Magnetic resonance imaging [MRI] and electroencephalogram [EEG] were done in some cases.
Results: Dermatological manifestation of neurofibromatosis [NF] was café au let macule [CALM], Axillary freckles and Neurofibroma. Tuberous sclerosis [TS] had Angiofibroma, Ash leaf and Shagreen patches. Ataxia telangiectasia [AT] had ocular and cutaneous telangiectasia. Xeroderma pigmentosa [XP] had Photo-sensitivity, solar lentigen and xerosis. Neurological manifestation of TS and NF was mental delay followed by Epilepsy. AT had ataxia, gradual motor regression. XP had moderate mental delay and the majority had ataxia, SWS had epilepsy, hemiplegia and mild mental.
Conclusion: NF is the most common NCS then TS, AT, Sturge-Weber, Xeroderma pigmentosum, and hypomelanosis of Ito, Linear Nevus Syndrome [LNS] and dyschromatosis symmetrica hereditra are the least. CALM is the most common dermatological manifestation in NF and TS, mental delay is the most common neurological manifestation. Port-Wine Stains [PWS] presents in all cases of SWS and epilepsy is the most common neurological manifestation. All cases of XP record Photosensitivity, solar lentigen, xerosis and mental delay, dry eye and conjunctival injection.

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